Rare Chromosome Disorder Awareness Week: Sadie - updated jun 2024

JUNE 16TH-21ST IS RARE CHROMOSOME DISORDER AWARENESS WEEK

Listed May 2022

"Sadie"

Meet adorable miss "Sadie"! Sadie is 5 years old and living in Eastern Europe. She is diagnosed with progressive ossifying fibrodysplasia (FOP) and autism.

FOP is a rare condition in which muscle and connective tissue like tendons gradually ossify, which essentially means turning into bone. It's a debilitating and chronic condition that slowly limits mobility.

Sadie is a sweet girl who loves to dance. Her favorite TV shows are Peppa Pig and Masha the Bear! She likes listening to music and watching cartoons.

Sadie has limited movement in her neck, back, hands, and arms. She has limited mobility, but is able to walk and bend down independently as of October 2022. She can put together puzzles and follow tasks. She initiates games like peek a boo. Sadie is minimally verbal, and will say words like mama, but typically communicates through gestures. She plays well with other kids. Recently, Sadie's mobility particularly in her upper body has declined. She needs help with simple tasks like getting out of bed. 

Sadie is not enrolled in preschool due to the fact that her foster family fears she will get hurt. With her diagnosis of FOP, injuries typically speed up the process of muscle turning into bone, limiting her mobility.  

Sadie's diagnosis of Progressive Ossifying Fibrodysplasia has already impacted her mobility, particularly in her upper body, even at just three years old (As of February 2023). Over time, Sadie's mobility will continue to decline, and eventually she will be in a wheelchair, unable to move at all. You can read Sadie's latest updates below on her current mobility. I also recommend looking up videos about the condition on YouTube to educate yourself. FOP is sometimes referred to as "Stone Man Syndrome". The condition is extremely rare, and has no cure. What "Sadie" needs most is a family willing to love her and walk through all the hard moments, and give her the best quality of life possible! 

Sadie's diagnosis is a result of a genetic mutation on chromosome 2. For more information, click here. 

Sadie does have speech delays and communicates using gestures and vocalizations. An agency can give more information about Sadie's autism diagnosis and how it impacts her.

Sadie has $1,777 in her personal grant with Reece's Rainbow, as well as a $4,000 grant with Hand in Hand! She also has a $3,000 grant with Agape! 

Sweet Sadie is slowly declining and nothing can stop it. She needs a family willing to give her love and medical care, and hold her hand through all the tough days. Even though she is still young, her limitations will eventually become significant, and the thought of her facing that alone hurts my heart. Please, see "Sadie" and the love she could bring to your life! Make her a cherished daughter! Click the link to make an inquiry or donate towards her adoption.

https://reecesrainbow.org/childgrant/sadie-2

Advocate for Sadie

VIDEO

https://youtu.be/VykOZ6pd1H0

UPDATE OCTOBER 2022

October 2022

UPDATE JANUARY 2023

Precious "Sadie" is also now listed with World Links Association! Her bio on Rainbowkids reads: Sadie moves actively, with limited adduction of the neck back, limited rotation of the body (neck musculature is asymmetrical, compacted and thickened); contractures in both elbow joints. She has a slight facial asymmetry, hypertelorism, lower earlobes; chest wall asymmetry; symmetrical bilateral deformity of the thumbs and toes – short and luxated. Sadie does not speak, does not communicate with other children. Self-care habits are lacking. She does not attend kindergarten. Sadie has a strong attachment to the foster mother. She feels calm and good in the presence of the other members of the foster family. Sadie also reacts positively to the meetings with the team - she smiles, looks for an emotional closeness, initiates play, insists that the one playing with her fulfills her wishes. She likes playing with balloons and balls. According to experts, Sadie is not upset by the presence of strangers. She expresses her joy through smiles and repeating inarticulate sounds. Sadie shows urgency when wanting to achieve a certain goal or perform a certain action. If she cannot cope, she seeks help from the foster parent or another adult. Sadie expresses her joy at an achievement (for example, putting a ball in a basket) and at encouragement and praise from adults. Sadie is a precious little girl whom I desperately want to see in a forever family. FOP is a debilitating chronic condition, and though it cannot be cured, without proper medical care and therapies, she will begin to decline sooner rather than later. Please, see Sadie and all her worth!

UPDATE FEBRUARY 2023

"Sadie" is now listed as "Sala" with Children's House International! Her bio on Rainbowkids reads: Sadie feels calm and good in the presence of the other members of the foster family. She also reacts positively to the meetings with the team - she smiles, looks for an emotional close, initiates play, and insists that the one playing with her fulfils her wishes. Sadie likes playing with balloons and balls. According to experts, she is not upset by the presence of strangers. Sadie expresses her joy through smiles and repeating inarticulate sounds. She repeats some numbers in English (e.g. one, two), and names objects (e.g. ball, pumpkin) and colors (pink, white, blue). She understands the general meaning of expressions and sentences that describe routine actions (e.g. give a kiss, say bye), but performs them whenever she wants. Someone go get this precious little girl! 

Sadie is now listed as "Sia" with Saint Mary International! Sadie was diagnosed with autism in July 2022. Her health condition is monitored by a physician. All immunizations have been given to date, but the doctor's recommendation  is to stop intramuscular immunizations in the future due to the disease. Over the past three months, the team has seen no significant change in Sadie's motor skills. She continues to move independently, but with a more rapid gait there is a risk of falling due to the inability to regain her balance once she has lost it. She cannot reach her arms, bend, and stretch. Sadie cannot turn her head sideways. Movements that require flexibility of the spine are also limited due to her diagnosis. Sadie cannot squat without support and cannot stand in a squatting position. She cannot extend her arms from the elbows and her forearms are usually bent at an angle. She manages, albeit limitedly, to move them back and forth relative to the torso. When she wants to pick up an object from the floor, Sadie looks for the attention of those around her to hand it to her, If there is a suitable support near the object, she grasps it with one hand and manages to pick it up by leaning towards it and bending her legs. Recently, the team has observed that when she wants to pick up an object from the ground, she does not always squat, because she may lose balance, and will kneel to achieve her goal. Sadie has limited movement of her fingers, but takes her own water bottle with a straw, and can drink independently. Sadie likes to doodle with a pen and can do it with both hands, but prefers to use her left hand. She is able to operate a phone while watching videos using her index finger. Sadie has made a good attachment to her foster parents, particularly her foster mother. She reacts positively to strangers, and will smile, look for emotional close, initiates play, and insists that the one playing with her fulfills her wishes. Sadie likes playing with balloons and balls. Sadie expresses her joy through smiles and vocalizations. She loves to be praised! According to the foster parent, Sadie vocalizes some of the shorter and easier words that are said to her. She will attempt to selectively repeat words while listening to adult conversations. She continues to make sounds and sometimes says syllables. Sadie does not imitate animal sounds. 

UPDATE MAY 2023

Sadie is listed as "Safira" with Hopscotch Adoptions! Her most recent update on Rainbowkids reads: Sadie continues to walk independently, but there are more concerns over falls and loss of balance, especially since Sadie does not have the upper body mobility to catch herself and prevent injury.  Her fine motor skills are limited, but include holding her own water bottle, swiping on electronics, and scribbling on paper.  Sadie can be stubborn when it comes to the pursuit of her own interests and does not like to be denied or rejected.  She may react with anger in such situations.  During preferred activities, Sadie can become completely absorbed and not react to any environmental stimuli. Sadie selectively carries out simple everyday instructions and she is reported to speak some single, concrete words, including in English, to communicate basic needs.  Sadie likes playing with balls and balloons and thrives in the predictable daily routine at the foster home.  She is strongly attached to her foster mother and tends to be more cooperative with and more easily soothed by her than anyone else.  Sadie is not attending kindergarten and her social contacts are limited to the foster family and their extended relatives.

UPDATE OCTOBER 2023

Sadie is now listed as "Sybil" with CCAI! Her update reads: Darling Sadie loves to play, especially with balloons and balls. She will initiate games and play with others; if she hands you a toy, she expects you to be ready to participate! She will also feed her doll with a spoon and enjoys watching children's movies. Despite a progressive disease and generalized developmental disorder, Sadie moves independently and is developing her fine motor skills. She understands simple sentences and instructions, but she chooses what instructions to follow! She demonstrates a strong attachment to her foster mother and reacts positively to meeting new people. She seeks help when she needs it and expresses joy at an achievement or when receiving praise. She even knows some words in English! Sweet Sadie truly needs and deserves a loving family who will help her reach her potential and thrive. Please help us find Sadie's family, wherever they are! Please someone see this precious and beautiful girl. She could really use some quality medical care and services that are not available to her in her country, as well as a family to stand by her side through all the hard moments. 

UPDATE NOVEMBER 2023

Sadie is now listed as "Stella" with Agape Adoptions! Her update reads: 4 year old Sadie is a loving girl living in an Eastern European country. Sadie can move independently, and walk without support. She has limited mobility in her arms and spine due to her health condition, but she can squat with support and pick up items from the ground if she can lean on something for support. Sadie is still developing her fine motor skills and can draw with a pen and use her fingers to navigate phones and technology. After living in an emotionally supportive environment, Sadie's communication has improved, and she can now understand simple sentences and commands. In recent months, she's incorporated English words into her vocabulary and repeats new words that her foster family speaks. Sadie is a joyful girl who expresses her emotions through nonverbal means, such as smiling and laughing. She's also very affectionate and loves to be around her foster family. Sadie enjoys playing with other children and particularly likes playing with balloons and balls. She has started playing role-playing games with her dolls and other children, and will often walk around the house with a doll in her hand. 

Sadie is now listed as "Susy" with Children's House International! Her update reads: Sadie is a sweet girl who continues to embrace her independence when she can. She still has trouble with balance and does not walk too fast to avoid falling. Her favorite activities include doodling, watching videos and movies, and listening to music. The foster family has developed a healthy emotional bond with her, showing she is capable of creating similar bonds with an adoptive family. Sadie's go to toys are balloons and balls; she enjoys eating bananas, waffles, and yogurt. Her vocabulary is slowly growing, and she speaks primarily with English words.

UPDATE FEBRUARY 2024

It breaks my heart to know this precious girl still waits. Sadie has already faced many challenges in her short life, and will face many more. I just hope and pray that she goes through them with a mama and papa holding her hand. Could Sadie be your daughter? Scroll above and click the link to inquire. She needs YOU! 

Sadie is now listed as "Sonia" with Alliance for Children. Her update with Rainbowkids reads: Over the past three months, the team of specialists has seen no significant change in Sonia's motor skills. She continues to move independently but with a more rapid gait, there is a risk of falling due to the inability to regain her balance once she has lost it. She cannot reach her arms, bend, stretch or  turn her head sideways. Movements that require flexibility of the spine are also limited due to the child's health condition. It is reported that in recent months the Sadie's vocabulary has been enriched with words, but in English. She repeats some numbers in English (e.g. one, two), names objects (e.g. ball, pumpkin) and colors (pink, white, blue). She understands the general meaning of expressions and sentences that describe routine actions (e.g. give a kiss, say bye), but performs them whenever she wants. New words such as "again," "remotely," "well done" and others appear. She tries to repeat words said by adults. She names colors as well as numbers, but in English. According to her foster parent, Sonia started playing role-playing games - eg. to feed her doll with a spoon. Sadie continues to be fed by the foster parent as she has difficulty using utensils due to limited hand movements. Since receiving water from a bottle with a straw and searches for it herself when she is thirsty or signals the foster parent by using words in English such as "water" or "pink" (the color of the bottle).

UPDATE APRIL 2024

Sadie is now listed as "Suri" with Children's House International! Her update with Rainbowkids reads: Sadie was born with a condition known as Pervasive Developmental Disorder, and she has been given an additional diagnosis of Autism. Her start in life was challenging, with a low birth weight and an early diagnosis of a rare and progressive condition called Progressive Ossifying Fibrodysplasia. This autosomal dominant disease manifests through congenital anomalies, primarily affecting the thumbs on both upper and lower limbs. Its clinical course is marked by the formation of dense, bone-like tissue in areas like the neck, body, and limbs—often triggered by trauma—which can lead to muscle contractures and deformations. Despite these physical challenges, Sadie demonstrates an active engagement with her surroundings. She exhibits some delay in neuropsychological development but compensates with her movement and curiosity. There are observable physical characteristics including slight facial asymmetry, wider spacing between the eyes (hypertelorism), lower positioning of the earlobes, and chest wall asymmetry. Additionally, there is a notable symmetrical deformity in both her thumbs and toes, appearing short and displaced. Comprehensive care plans have been developed by medical specialists who advise maximum protection against injuries for Sadie. It is crucial to avoid muscle manipulations and immunizations due to her condition, and surgical correction for her thumbs is not advised. Emergency surgeries may be considered if necessary. To assist with the movement limitations of her upper limbs, wearing a protective helmet is recommended for added safety. 

UPDATE JUNE 2024

Sweet "Sadie" has a new update with Rainbowkids! Her update reads: Sadie enjoys watching cartoons in English and much of her expressive language is in English, including naming colors and numbers. She is reported to speak an increasing number of single, concrete words in her native language also to communicate basic needs. However, most of her communication is nonverbal and if she is not understood, she reacts with crying or shouting. Sadie likes playing with balls and balloons as well as listening to music, and thrives in the predictable daily routine at the foster home. She is strongly attached to her emotionally warm and dedicated foster mother and tends to be more cooperative with and more easily soothed by her than anyone else. Sadie is not attending school and her social contacts are limited to the foster family and their extended relatives. Her participation in the community is also restricted to keep her safe. A family interested in adopting Sadie is encouraged to research her diagnosis and how it will affect her in the coming decades. She will need long-term resources and assistance to support her quality of life and to achieve her best potential.